17-49071322-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49071322
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49071322
    reference: chr 17
allele count: 1
allele frequency: 9.698756619401393e-6
allele num: 103106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2185-26A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1745-26A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.686-26A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2227-26A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2197-26A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1756-26A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1800-26A>G
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7025
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10107
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7013
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15435
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4087
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-49071325-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49071325
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49071325
    reference: chr 17
allele count: 1
allele frequency: 9.746968692736559e-6
allele num: 102596
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2227-29T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2185-29T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1756-29T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.686-29T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1800-29T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1745-29T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2197-29T>G
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5342
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

17-49071327-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49071327
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49071327
    reference: chr 17
allele count: 1
allele frequency: 9.82646463455378e-6
allele num: 101766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1800-31T>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1745-31T>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2197-31T>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2227-31T>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1756-31T>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.686-31T>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2185-31T>A
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9672
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16618
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/17-49071337-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49071337
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49071337
    reference: chr 17
allele count: 1
allele frequency: 1.027094759762536e-5
allele num: 97362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2197-41T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2227-41T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2185-41T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1800-41T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1756-41T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.686-41T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1745-41T>G
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13979
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14490
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

17-49071338-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49071338
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49071338
    reference: chr 17
allele count: 1
allele frequency: 1.027242470312693e-5
allele num: 97348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1800-42A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.686-42A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1756-42A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2227-42A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2197-42A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1745-42A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2185-42A>G
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13951
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14632
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6058
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5734
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

17-49071340-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49071340
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49071340
    reference: chr 17
allele count: 2
allele frequency: 2.067696379463639e-5
allele num: 96726
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2227-44A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2197-44A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1745-44A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2185-44A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.686-44A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1800-44A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1756-44A>G
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20332
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3309
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6816
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

17-49071342-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49071342
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49071342
    reference: chr 17
allele count: 1
allele frequency: 1.047559187094071e-5
allele num: 95460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2197-46G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1756-46G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1800-46G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.686-46G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2227-46G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2185-46G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1745-46G>A
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20018
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5658
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3669
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 4830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

17-49072373-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072373
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072373
    reference: chr 17
allele count: 1
allele frequency: 8.857082122865444e-6
allele num: 112904
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2226+45G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2196+45G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1799+45G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.685+45G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1755+45G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2184+45G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1744+45G>A
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24816
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4540
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8802
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33129
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-49072390-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072390
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072390
    reference: chr 17
allele count: 221
allele frequency: 1.945593802271327e-3
allele num: 113590
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2184+28G>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1799+28G>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.685+28G>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1744+28G>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2226+28G>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1755+28G>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2196+28G>C
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25179
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9481
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 12591
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35006
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-49072407-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072407
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072407
    reference: chr 17
allele count: 1617
allele frequency: 1.400096976413951e-2
allele num: 115492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1744+11G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1755+11G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1799+11G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2226+11G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.685+11G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2196+11G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2184+11G>A
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 10383
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 3.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25204
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.75e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 4.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 12349
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 164
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36040
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 80
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

17-49072409-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072409
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072409
    reference: chr 17
allele count: 274
allele frequency: 2.364474206520426e-3
allele num: 115882
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2226+9G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1755+9G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1744+9G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.685+9G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2196+9G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1799+9G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2184+9G>A
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25949
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10728
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 12700
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3915
  bin: 9.75e1
  variant carriers: 269
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 4
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum

17-49072412-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072412
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072412
    reference: chr 17
allele count: 1
allele frequency: 8.587671538738987e-6
allele num: 116446
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1744+6T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2226+6T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1799+6T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2196+6T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.685+6T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1755+6T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2184+6T>C
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 9.25e1
  variant carriers: 0
hgvs: c.2226+6T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-49072412-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072412
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072412
    reference: chr 17
allele count: 1
allele frequency: 8.587671538738987e-6
allele num: 116446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1744+6T>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2196+6T>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2184+6T>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.685+6T>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1755+6T>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2226+6T>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1799+6T>A
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2226+6T>A
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

17-49072446-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072446
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072446
    reference: chr 17
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2198G>C
  hgvsp: ENSP00000262013.7:p.Ser733Thr
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2168G>C
  hgvsp: ENSP00000426900.1:p.Ser723Thr
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1771G>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1716G>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2156G>C
  hgvsp: ENSP00000349636.4:p.Ser719Thr
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1727G>C
  hgvsp: ENSP00000423165.1:p.Ser576Thr
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.657G>C
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser733Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

17-49072455-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072455
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072455
    reference: chr 17
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2159C>G
  hgvsp: ENSP00000426900.1:p.Ser720Cys
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1762C>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1718C>G
  hgvsp: ENSP00000423165.1:p.Ser573Cys
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2189C>G
  hgvsp: ENSP00000262013.7:p.Ser730Cys
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.648C>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1707C>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2147C>G
  hgvsp: ENSP00000349636.4:p.Ser716Cys
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9383
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser730Cys
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-49072462-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072462
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072462
    reference: chr 17
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1700A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2140A>G
  hgvsp: ENSP00000349636.4:p.Ser714Gly
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.641A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2152A>G
  hgvsp: ENSP00000426900.1:p.Ser718Gly
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1755A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1711A>G
  hgvsp: ENSP00000423165.1:p.Ser571Gly
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2182A>G
  hgvsp: ENSP00000262013.7:p.Ser728Gly
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40922
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser728Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

17-49072464-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072464
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072464
    reference: chr 17
allele count: 27
allele frequency: 2.226326725815495e-4
allele num: 121276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1709G>A
  hgvsp: ENSP00000423165.1:p.Arg570Gln
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1698G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2150G>A
  hgvsp: ENSP00000426900.1:p.Arg717Gln
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.639G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2138G>A
  hgvsp: ENSP00000349636.4:p.Arg713Gln
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1753G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2180G>A
  hgvsp: ENSP00000262013.7:p.Arg727Gln
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 27285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg727Gln
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-49072491-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072491
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072491
    reference: chr 17
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1682G>C
  hgvsp: ENSP00000423165.1:p.Gly561Ala
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2153G>C
  hgvsp: ENSP00000262013.7:p.Gly718Ala
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2123G>C
  hgvsp: ENSP00000426900.1:p.Gly708Ala
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2111G>C
  hgvsp: ENSP00000349636.4:p.Gly704Ala
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1671G>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.612G>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1726G>C
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41058
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gly718Ala
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-49072494-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072494
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072494
    reference: chr 17
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1668C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1723C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.609C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1679C>T
  hgvsp: ENSP00000423165.1:p.Ala560Val
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2150C>T
  hgvsp: ENSP00000262013.7:p.Ala717Val
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2120C>T
  hgvsp: ENSP00000426900.1:p.Ala707Val
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2108C>T
  hgvsp: ENSP00000349636.4:p.Ala703Val
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala717Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

17-49072500-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072500
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072500
    reference: chr 17
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1673A>T
  hgvsp: ENSP00000423165.1:p.Asp558Val
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1717A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2102A>T
  hgvsp: ENSP00000349636.4:p.Asp701Val
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1662A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.603A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2114A>T
  hgvsp: ENSP00000426900.1:p.Asp705Val
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2144A>T
  hgvsp: ENSP00000262013.7:p.Asp715Val
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9400
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp715Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-49072518-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072518
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072518
    reference: chr 17
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2084C>G
  hgvsp: ENSP00000349636.4:p.Ala695Gly
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1644C>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2126C>G
  hgvsp: ENSP00000262013.7:p.Ala709Gly
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.585C>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2096C>G
  hgvsp: ENSP00000426900.1:p.Ala699Gly
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1699C>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1655C>G
  hgvsp: ENSP00000423165.1:p.Ala552Gly
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala709Gly
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/17-49072547-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072547
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072547
    reference: chr 17
allele count: 2
allele frequency: 1.649402916144356e-5
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1615G>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2055G>T
  hgvsp: ENSP00000349636.4:p.Lys685Asn
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.556G>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1670G>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1626G>T
  hgvsp: ENSP00000423165.1:p.Lys542Asn
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2067G>T
  hgvsp: ENSP00000426900.1:p.Lys689Asn
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2097G>T
  hgvsp: ENSP00000262013.7:p.Lys699Asn
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Lys699Asn
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-49072548-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072548
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072548
    reference: chr 17
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2054A>G
  hgvsp: ENSP00000349636.4:p.Lys685Arg
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.555A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1614A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1625A>G
  hgvsp: ENSP00000423165.1:p.Lys542Arg
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2096A>G
  hgvsp: ENSP00000262013.7:p.Lys699Arg
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2066A>G
  hgvsp: ENSP00000426900.1:p.Lys689Arg
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1669A>G
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys699Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/17-49072554-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072554
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072554
    reference: chr 17
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2090G>T
  hgvsp: ENSP00000262013.7:p.Gly697Val
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1663G>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1619G>T
  hgvsp: ENSP00000423165.1:p.Gly540Val
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2048G>T
  hgvsp: ENSP00000349636.4:p.Gly683Val
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1608G>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2060G>T
  hgvsp: ENSP00000426900.1:p.Gly687Val
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.549G>T
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly697Val
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

17-49072559-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072559
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072559
    reference: chr 17
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1603A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2043A>T
  hgvsp: ENSP00000349636.4:p.Leu681Phe
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1614A>T
  hgvsp: ENSP00000423165.1:p.Leu538Phe
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2085A>T
  hgvsp: ENSP00000262013.7:p.Leu695Phe
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.544A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1658A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2055A>T
  hgvsp: ENSP00000426900.1:p.Leu685Phe
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40863
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu695Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/17-49072561-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072561
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072561
    reference: chr 17
allele count: 22
allele frequency: 1.816980508754542e-4
allele num: 121080
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2053T>G
  hgvsp: ENSP00000426900.1:p.Leu685Val
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1656T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2083T>G
  hgvsp: ENSP00000262013.7:p.Leu695Val
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2041T>G
  hgvsp: ENSP00000349636.4:p.Leu681Val
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1601T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1612T>G
  hgvsp: ENSP00000423165.1:p.Leu538Val
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.542T>G
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13013
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu695Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-49072563-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072563
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072563
    reference: chr 17
allele count: 23
allele frequency: 1.899539155283197e-4
allele num: 121082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1654A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2039A>G
  hgvsp: ENSP00000349636.4:p.Asn680Ser
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2081A>G
  hgvsp: ENSP00000262013.7:p.Asn694Ser
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1610A>G
  hgvsp: ENSP00000423165.1:p.Asn537Ser
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2051A>G
  hgvsp: ENSP00000426900.1:p.Asn684Ser
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1599A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.540A>G
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13021
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn694Ser
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

17-49072565-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072565
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072565
    reference: chr 17
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2049C>T
  hgvsp: ENST00000505279.1:c.2049C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1608C>T
  hgvsp: ENST00000510283.1:c.1608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1597C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.538C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2037C>T
  hgvsp: ENST00000357122.4:c.2037C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2079C>T
  hgvsp: ENST00000262013.7:c.2079C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1652C>T
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val693Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

17-49072567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072567
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072567
    reference: chr 17
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1606G>A
  hgvsp: ENSP00000423165.1:p.Val536Ile
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2077G>A
  hgvsp: ENSP00000262013.7:p.Val693Ile
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1650G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2047G>A
  hgvsp: ENSP00000426900.1:p.Val683Ile
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.536G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2035G>A
  hgvsp: ENSP00000349636.4:p.Val679Ile
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1595G>A
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27357
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9303
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val693Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

17-49072577-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072577
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072577
    reference: chr 17
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2025T>C
  hgvsp: ENST00000357122.4:c.2025T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.526T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1640T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2067T>C
  hgvsp: ENST00000262013.7:c.2067T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1585T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1596T>C
  hgvsp: ENST00000510283.1:c.1596T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2037T>C
  hgvsp: ENST00000505279.1:c.2037T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys689Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

17-49072594-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072594
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072594
    reference: chr 17
allele count: 2
allele frequency: 1.688476150274377e-5
allele num: 118450
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2017-9C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1577-9C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1632-9C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.518-9C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1588-9C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2059-9C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2029-9C>T
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

17-49072601-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072601
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072601
    reference: chr 17
allele count: 5
allele frequency: 4.257493188010899e-5
allele num: 117440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1588-16T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.518-16T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1577-16T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2029-16T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1632-16T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2017-16T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2059-16T>C
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24435
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11547
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3576
  bin: 9.75e1
  variant carriers: 5
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

17-49072606-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072606
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072606
    reference: chr 17
allele count: 1
allele frequency: 8.553588230262596e-6
allele num: 116910
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2017-21T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1577-21T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1632-21T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.518-21T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1588-21T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2029-21T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2059-21T>C
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8596
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

17-49072621-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072621
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072621
    reference: chr 17
allele count: 45
allele frequency: 3.942250411746154e-4
allele num: 114148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.518-36C>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2059-36C>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1577-36C>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2029-36C>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1588-36C>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2017-36C>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1632-36C>G
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12572
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11063
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14892
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

17-49072624-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072624
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072624
    reference: chr 17
allele count: 30
allele frequency: 2.637919209327682e-4
allele num: 113726
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2059-39T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2017-39T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1588-39T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1577-39T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.518-39T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1632-39T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2029-39T>C
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12901
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13577
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 12497
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6719
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8804
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

17-49072630-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072630
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072630
    reference: chr 17
allele count: 1
allele frequency: 8.915198630625491e-6
allele num: 112168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1588-45T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1577-45T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2017-45T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.518-45T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2059-45T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1632-45T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2029-45T>C
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15080
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4037
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3893
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6775
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3802
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/17-49072754-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072754
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072754
    reference: chr 17
allele count: 1
allele frequency: 9.081497357284268e-6
allele num: 110114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1631+51T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1587+51T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2016+51T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2028+51T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2058+51T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.517+51T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1576+51T>G
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16122
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5487
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6319
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3446
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

17-49072766-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072766
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072766
    reference: chr 17
allele count: 5
allele frequency: 4.512065262511957e-5
allele num: 110814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2028+39C>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1576+39C>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1631+39C>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.517+39C>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2016+39C>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2058+39C>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1587+39C>A
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10708
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23601
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4702
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4733
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

17-49072769-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072769
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072769
    reference: chr 17
allele count: 1
allele frequency: 8.987471464778099e-6
allele num: 111266
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2058+36A>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2028+36A>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2016+36A>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1587+36A>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1576+36A>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.517+36A>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1631+36A>C
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3709
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4132
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/17-49072793-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072793
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072792
    reference: chr 17
allele count: 3
allele frequency: 2.53070589823188e-5
allele num: 118544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1587+11delT
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2058+11delT
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2016+11delT
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2028+11delT
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.517+11delT
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1631+11delT
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1576+11delT
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11253
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4161
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: CA
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

17-49072796-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072796
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072796
    reference: chr 17
allele count: 4
allele frequency: 3.358071123946405e-5
allele num: 119116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1587+9A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1576+9A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2016+9A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1631+9A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2058+9A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2028+9A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.517+9A>T
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11459
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4162
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

17-49072810-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072810
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072810
    reference: chr 17
allele count: 1
allele frequency: 8.299581701082266e-6
allele num: 120488
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.512A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1571A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1582A>G
  hgvsp: ENSP00000423165.1:p.Met528Val
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2011A>G
  hgvsp: ENSP00000349636.4:p.Met671Val
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1626A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2053A>G
  hgvsp: ENSP00000262013.7:p.Met685Val
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2023A>G
  hgvsp: ENSP00000426900.1:p.Met675Val
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46038
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met685Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

17-49072814-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072814
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072814
    reference: chr 17
allele count: 2
allele frequency: 1.657110661849998e-5
allele num: 120692
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.508A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1578A>G
  hgvsp: ENST00000510283.1:c.1578A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1567A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2019A>G
  hgvsp: ENST00000505279.1:c.2019A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2049A>G
  hgvsp: ENST00000262013.7:c.2049A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2007A>G
  hgvsp: ENST00000357122.4:c.2007A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1622A>G
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4926
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr683Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-49072821-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072821
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072821
    reference: chr 17
allele count: 1
allele frequency: 8.272530236098013e-6
allele num: 120882
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.2012A>C
  hgvsp: ENSP00000426900.1:p.Lys671Thr
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1571A>C
  hgvsp: ENSP00000423165.1:p.Lys524Thr
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2042A>C
  hgvsp: ENSP00000262013.7:p.Lys681Thr
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.501A>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1615A>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1560A>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.2000A>C
  hgvsp: ENSP00000349636.4:p.Lys667Thr
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys681Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

17-49072838-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072838
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072838
    reference: chr 17
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1543C>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1554C>A
  hgvsp: ENST00000510283.1:c.1554C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.484C>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1598C>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1995C>A
  hgvsp: ENST00000505279.1:c.1995C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2025C>A
  hgvsp: ENST00000262013.7:c.2025C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1983C>A
  hgvsp: ENST00000357122.4:c.1983C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4158
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu675Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

17-49072842-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072842
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072842
    reference: chr 17
allele count: 4
allele frequency: 3.302564441288661e-5
allele num: 121118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1594A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.480A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1979A>G
  hgvsp: ENSP00000349636.4:p.Tyr660Cys
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1550A>G
  hgvsp: ENSP00000423165.1:p.Tyr517Cys
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2021A>G
  hgvsp: ENSP00000262013.7:p.Tyr674Cys
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1539A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1991A>G
  hgvsp: ENSP00000426900.1:p.Tyr664Cys
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46589
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4160
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr674Cys
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

17-49072845-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072845
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072845
    reference: chr 17
allele count: 2
allele frequency: 1.651200422707308e-5
allele num: 121124
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2018T>C
  hgvsp: ENSP00000262013.7:p.Val673Ala
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1976T>C
  hgvsp: ENSP00000349636.4:p.Val659Ala
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1988T>C
  hgvsp: ENSP00000426900.1:p.Val663Ala
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1591T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.477T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1547T>C
  hgvsp: ENSP00000423165.1:p.Val516Ala
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1536T>C
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 46582
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val673Ala
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-49072852-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072852
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072852
    reference: chr 17
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1969G>A
  hgvsp: ENSP00000349636.4:p.Val657Met
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1540G>A
  hgvsp: ENSP00000423165.1:p.Val514Met
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1981G>A
  hgvsp: ENSP00000426900.1:p.Val661Met
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1529G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.470G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.2011G>A
  hgvsp: ENSP00000262013.7:p.Val671Met
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1584G>A
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4977
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val671Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-49072868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072868
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072868
    reference: chr 17
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1953G>A
  hgvsp: ENST00000357122.4:c.1953G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1965G>A
  hgvsp: ENST00000505279.1:c.1965G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1568G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1995G>A
  hgvsp: ENST00000262013.7:c.1995G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.454G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1513G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1524G>A
  hgvsp: ENST00000510283.1:c.1524G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4158
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4961
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys665Lys
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

17-49072880-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072880
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072880
    reference: chr 17
allele count: 1
allele frequency: 8.276227364518158e-6
allele num: 120828
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1953A>T
  hgvsp: ENSP00000426900.1:p.Gln651His
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1501A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1556A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.442A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1983A>T
  hgvsp: ENSP00000262013.7:p.Gln661His
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1941A>T
  hgvsp: ENSP00000349636.4:p.Gln647His
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1512A>T
  hgvsp: ENSP00000423165.1:p.Gln504His
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4937
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln661His
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

17-49072891-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072891
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072891
    reference: chr 17
allele count: 4
allele frequency: 3.32021847037535e-5
allele num: 120474
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1501A>G
  hgvsp: ENSP00000423165.1:p.Thr501Ala
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.431A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1930A>G
  hgvsp: ENSP00000349636.4:p.Thr644Ala
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1972A>G
  hgvsp: ENSP00000262013.7:p.Thr658Ala
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1942A>G
  hgvsp: ENSP00000426900.1:p.Thr648Ala
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1545A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1490A>G
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4890
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr658Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

17-49072894-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072894
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072894
    reference: chr 17
allele count: 1
allele frequency: 8.312137383006666e-6
allele num: 120306
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1969G>A
  hgvsp: ENSP00000262013.7:p.Val657Ile
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1487G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1498G>A
  hgvsp: ENSP00000423165.1:p.Val500Ile
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1927G>A
  hgvsp: ENSP00000349636.4:p.Val643Ile
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1939G>A
  hgvsp: ENSP00000426900.1:p.Val647Ile
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.428G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1542G>A
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4157
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val657Ile
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS

17-49072899-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072899
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072899
    reference: chr 17
allele count: 4
allele frequency: 3.333722267597886e-5
allele num: 119986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1487-5A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1498-5A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1939-5A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1927-5A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1542-5A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1969-5A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.423A>G
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4160
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43087
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1969-5A>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

17-49072902-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072902
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072902
    reference: chr 17
allele count: 1
allele frequency: 8.34752412434472e-6
allele num: 119796
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1969-8A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1542-8A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1498-8A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1927-8A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.420A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1487-8A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1939-8A>G
  variant of: http://identifiers.org/hgnc/14524
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4157
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1969-8A>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

17-49072903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072903
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072903
    reference: chr 17
allele count: 1
allele frequency: 8.362043014349267e-6
allele num: 119588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1498-9C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1939-9C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1542-9C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1969-9C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.419C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1487-9C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1927-9C>T
  variant of: http://identifiers.org/hgnc/14524
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4689
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-49072904-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072904
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072904
    reference: chr 17
allele count: 2
allele frequency: 1.672464543751672e-5
allele num: 119584
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1487-10C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1939-10C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1969-10C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1498-10C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1927-10C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1542-10C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.418C>T
  variant of: http://identifiers.org/hgnc/14524
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

17-49072910-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072910
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072910
    reference: chr 17
allele count: 6
allele frequency: 5.03516221614273e-5
allele num: 119162
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1969-16C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1927-16C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1939-16C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.412C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1542-16C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1498-16C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1487-16C>T
  variant of: http://identifiers.org/hgnc/14524
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11943
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4558
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

17-49072918-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072918
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072918
    reference: chr 17
allele count: 13
allele frequency: 1.099068328232529e-4
allele num: 118282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1498-24C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1542-24C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1487-24C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1927-24C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.404C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1969-24C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1939-24C>T
  variant of: http://identifiers.org/hgnc/14524
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11461
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27750
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4169
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

17-49072918-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072918
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072919
    reference: chr 17
allele count: 2
allele frequency: 1.690874351126968e-5
allele num: 118282
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.403dupT
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1927-25dupT
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1498-25dupT
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1487-25dupT
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1542-25dupT
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1969-25dupT
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1939-25dupT
  variant of: http://identifiers.org/hgnc/14524
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27750
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-49072923-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072923
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072923
    reference: chr 17
allele count: 2
allele frequency: 1.692562878710944e-5
allele num: 118164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1927-29T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1542-29T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1969-29T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1939-29T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1487-29T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1498-29T>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.399T>G
  variant of: http://identifiers.org/hgnc/14524
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4157
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27187
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

17-49072924-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072924
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072924
    reference: chr 17
allele count: 2
allele frequency: 1.691846989358282e-5
allele num: 118214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1487-30C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1542-30C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1969-30C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1939-30C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1498-30C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.398C>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1927-30C>T
  variant of: http://identifiers.org/hgnc/14524
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8131
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23540
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4602
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4157
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3817
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-49072931-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072931
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072931
    reference: chr 17
allele count: 2
allele frequency: 1.700767045937718e-5
allele num: 117594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1487-37A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.391A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1498-37A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1927-37A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1542-37A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1969-37A>T
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1939-37A>T
  variant of: http://identifiers.org/hgnc/14524
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12954
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5697
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-49072934-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072934
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072934
    reference: chr 17
allele count: 1
allele frequency: 8.529366609235598e-6
allele num: 117242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.388A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1927-40A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1487-40A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1498-40A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1969-40A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1939-40A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1542-40A>G
  variant of: http://identifiers.org/hgnc/14524
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18226
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14719
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5947
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS

17-49072936-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072936
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072936
    reference: chr 17
allele count: 1
allele frequency: 8.562376915831835e-6
allele num: 116790
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1969-42T>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1542-42T>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1487-42T>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.386T>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1927-42T>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1498-42T>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1939-42T>A
  variant of: http://identifiers.org/hgnc/14524
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5084
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6065
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

17-49072939-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072939
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072939
    reference: chr 17
allele count: 1
allele frequency: 8.604074889867842e-6
allele num: 116224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1939-45G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1927-45G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1542-45G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1498-45G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1487-45G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.383G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1969-45G>A
  variant of: http://identifiers.org/hgnc/14524
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18608
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6090
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5340
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

17-49072941-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49072941
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49072941
    reference: chr 17
allele count: 74
allele frequency: 6.384483978396287e-4
allele num: 115906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1542-47G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1969-47G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1498-47G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000506483
  gene symbol: SPAG9
  hgvsc: ENST00000506483.1:n.381G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1939-47G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1927-47G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1487-47G>A
  variant of: http://identifiers.org/hgnc/14524
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9430
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15050
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18770
  bin: 2.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 13594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6092
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4213
  bin: 9.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 3273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5700
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-49073876-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49073876
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49073876
    reference: chr 17
allele count: 2
allele frequency: 1.656918463042434e-5
allele num: 120706
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1968+50T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1497+50T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1926+50T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1486+50T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000513827
  gene symbol: SPAG9
  hgvsc: ENST00000513827.1:n.442T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1541+50T>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1938+50T>C
  variant of: http://identifiers.org/hgnc/14524
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10811
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4875
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

17-49073877-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49073877
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49073877
    reference: chr 17
allele count: 7
allele frequency: 5.801810164771409e-5
allele num: 120652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1497+49G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1926+49G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000513827
  gene symbol: SPAG9
  hgvsc: ENST00000513827.1:n.441G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1541+49G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1486+49G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1968+49G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1938+49G>A
  variant of: http://identifiers.org/hgnc/14524
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26961
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11210
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10804
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

17-49073878-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49073878
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49073878
    reference: chr 17
allele count: 42
allele frequency: 3.478894705453581e-4
allele num: 120728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1938+48A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1486+48A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1926+48A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1497+48A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000513827
  gene symbol: SPAG9
  hgvsc: ENST00000513827.1:n.440A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1541+48A>G
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1968+48A>G
  variant of: http://identifiers.org/hgnc/14524
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11365
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10787
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26995
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

17-49073885-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49073885
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49073885
    reference: chr 17
allele count: 9
allele frequency: 7.450824557917744e-5
allele num: 120792
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1497+41G>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1486+41G>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1926+41G>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1938+41G>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1968+41G>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1541+41G>C
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000513827
  gene symbol: SPAG9
  hgvsc: ENST00000513827.1:n.433G>C
  variant of: http://identifiers.org/hgnc/14524
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12110
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

17-49073888-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49073888
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49073888
    reference: chr 17
allele count: 1
allele frequency: 8.277460475126231e-6
allele num: 120810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1541+38G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1926+38G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1486+38G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1497+38G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1938+38G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000513827
  gene symbol: SPAG9
  hgvsc: ENST00000513827.1:n.430G>A
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1968+38G>A
  variant of: http://identifiers.org/hgnc/14524
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/17-49073908-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49073908
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 49073907
    reference: chr 17
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000505173
  gene symbol: SPAG9
  hgvsc: ENST00000505173.1:n.1486+17delG
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000262013
  ensembl transcript: ENST00000262013
  gene symbol: SPAG9
  hgvsc: ENST00000262013.7:c.1968+17delG
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000513827
  gene symbol: SPAG9
  hgvsc: ENST00000513827.1:n.409delG
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000423165
  ensembl transcript: ENST00000510283
  gene symbol: SPAG9
  hgvsc: ENST00000510283.1:c.1497+17delG
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl transcript: ENST00000514613
  gene symbol: SPAG9
  hgvsc: ENST00000514613.1:n.1541+17delG
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000349636
  ensembl transcript: ENST00000357122
  gene symbol: SPAG9
  hgvsc: ENST00000357122.4:c.1926+17delG
  variant of: http://identifiers.org/hgnc/14524
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008294
  ensembl protein: ENSP00000426900
  ensembl transcript: ENST00000505279
  gene symbol: SPAG9
  hgvsc: ENST00000505279.1:c.1938+17delG
  variant of: http://identifiers.org/hgnc/14524
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: AC

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16940
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5148
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 927
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2333
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.103265666372463e-4
allele num: 9064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14484
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.109809e6

MQ
type: SiteQuality
SIO_000300: 5.631e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

QD
type: SiteQuality
SIO_000300: 1.671e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.159e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

GenotypeQuality
all individuals: 7495
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14162
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17001
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4548
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1952
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.8195713089996e-5
allele num: 54958
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.222e0

VQSLOD
type: SiteQuality
SIO_000300: -1.339e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

DP
type: SiteQuality
SIO_000300: 1.090045e6

MQ
type: SiteQuality
SIO_000300: 5.777e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

GenotypeQuality
all individuals: 868
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8060
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2334
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54426
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.310959622443629e-4
allele num: 7628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.587e0

QD
type: SiteQuality
SIO_000300: 6.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.312e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.115e0

FS
type: SiteQuality
SIO_000300: 2.553e0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

DP
type: SiteQuality
SIO_000300: 1.066498e6

MQ
type: SiteQuality
SIO_000300: 5.896e1

GenotypeQuality
all individuals: 522
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5731
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8899
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6799
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2331
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1862
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3077
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5934
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7326
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.215007215007215e-5
allele num: 13860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.851e-1

DP
type: SiteQuality
SIO_000300: 1.006444e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.361e0

FS
type: SiteQuality
SIO_000300: 2.831e0

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.68e0

GenotypeQuality
all individuals: 1872
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6789
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3075
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8887
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2519
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.097213078779899e-4
allele num: 9114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51658
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.138e0

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: -1.526e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.00601e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

QD
type: SiteQuality
SIO_000300: 1.748e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.639e0

GenotypeQuality
all individuals: 8883
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1916
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14363
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2581
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2278
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5706
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.900916715428125e-5
allele num: 51270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8672
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5904
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.001979e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 1.157e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 521
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6822
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8855
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13722
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8892
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.165229550221394e-4
allele num: 8582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5854
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7184
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.73e-1

FS
type: SiteQuality
SIO_000300: 2.057e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.708e0

DP
type: SiteQuality
SIO_000300: 9.97175e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.712e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: -2.316e-1

GenotypeQuality
all individuals: 1274
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10618
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.742790335151988e-5
allele num: 10264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64546
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.832e0

DP
type: SiteQuality
SIO_000300: 1.732135e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.007e0

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 8.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e-1

GenotypeQuality
all individuals: 8811
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4623
bin: 9.75e1
variant carriers: 219

GenotypeQuality
all individuals: 3246
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 539
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 7.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.214670606640013e-4
allele num: 11506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

African
type: Population
allele count: 215
allele frequency: 2.089407191448008e-2
allele num: 10290
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64732
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.411e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

DP
type: SiteQuality
SIO_000300: 1.754759e6

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

FS
type: SiteQuality
SIO_000300: 2.584e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

QD
type: SiteQuality
SIO_000300: 1.249e1

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2787
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 405
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 619
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5255
bin: 9.75e1
variant carriers: 1521

GenotypeQuality
all individuals: 8836
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1124
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 334
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 1124
allele frequency: 9.746791536593825e-2
allele num: 11532
num of homozygotes: 72

South Asian
type: Population
allele count: 74
allele frequency: 5.973522763965127e-3
allele num: 12388
num of homozygotes: 1

Other
type: Population
allele count: 10
allele frequency: 1.17096018735363e-2
allele num: 854
num of homozygotes: 0

East Asian
type: Population
allele count: 352
allele frequency: 4.086371023914558e-2
allele num: 8614
num of homozygotes: 7

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.216804247092398e-4
allele num: 65174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.361161524500907e-3
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.35685210312076e-3
allele num: 10318
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.992e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.389999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

FS
type: SiteQuality
SIO_000300: 3.002e0

QD
type: SiteQuality
SIO_000300: 1.217e1

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.815084e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 88
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 318
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37274
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9079
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 12
allele frequency: 1.040402288885036e-3
allele num: 11534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 256
allele frequency: 2.480139507847316e-2
allele num: 10322
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.129704548240775e-5
allele num: 65256
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.325581395348837e-3
allele num: 860
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.809e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.75e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.31e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.767487e6

FS
type: SiteQuality
SIO_000300: 4.096e0

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3667
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9124
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37724
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529472943623627e-5
allele num: 65382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

QD
type: SiteQuality
SIO_000300: 1.243e1

MQ
type: SiteQuality
SIO_000300: 5.884e1

VQSLOD
type: SiteQuality
SIO_000300: 2.36e-1

DP
type: SiteQuality
SIO_000300: 1.757589e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

FS
type: SiteQuality
SIO_000300: 1.034e0

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.35e-1

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37724
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9124
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2082
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3667
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13104
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.243e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

FS
type: SiteQuality
SIO_000300: 1.034e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

DP
type: SiteQuality
SIO_000300: 1.757589e6

MQ
type: SiteQuality
SIO_000300: 5.884e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40484
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2117
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3665
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9325
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

VQSLOD
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 3.75e0

DP
type: SiteQuality
SIO_000300: 1.804327e6

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40854
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GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.427e0

DP
type: SiteQuality
SIO_000300: 1.808785e6

VQSLOD
type: SiteQuality
SIO_000300: 7.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.075e0

MQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

FS
type: SiteQuality
SIO_000300: 9.29e-1

QD
type: SiteQuality
SIO_000300: 1.417e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 87
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 2159
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.908e1

MQRankSum
type: SiteQuality
SIO_000300: -5.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.729e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.828e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.028e0

DP
type: SiteQuality
SIO_000300: 1.810564e6

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 27

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 19
allele frequency: 2.197039777983349e-3
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.071666162685213e-4
allele num: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.812386e6

FS
type: SiteQuality
SIO_000300: 1.106e0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.14e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.23e-1

QD
type: SiteQuality
SIO_000300: 1.245e1

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2144
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9399
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 449
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997601918465228e-5
allele num: 66720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 6.736e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -9.538e-1

DP
type: SiteQuality
SIO_000300: 1.811707e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.29e0

QD
type: SiteQuality
SIO_000300: 1.323e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41065
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
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variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3645
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variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 1147
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2147
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

FS
type: SiteQuality
SIO_000300: 6.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

DP
type: SiteQuality
SIO_000300: 1.811709e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.167e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.81e0

GenotypeQuality
all individuals: 3645
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2143
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 41062
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.61e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.42e-1

DP
type: SiteQuality
SIO_000300: 1.811624e6

FS
type: SiteQuality
SIO_000300: 1.938e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.278e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e0

GenotypeQuality
all individuals: 46
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 7.25e1
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GenotypeQuality
all individuals: 3641
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variant carriers: 1

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 41048
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-2

QD
type: SiteQuality
SIO_000300: 1.536e1

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-1

FS
type: SiteQuality
SIO_000300: 6.473e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.81158e6

GenotypeQuality
all individuals: 9357
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 615
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GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 37
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GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999670036296008e-5
allele num: 66674
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.810026e6

VQSLOD
type: SiteQuality
SIO_000300: 6.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.436e0

FS
type: SiteQuality
SIO_000300: 4.213e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.448e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 31
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 40953
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3633
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variant carriers: 1

GenotypeQuality
all individuals: 2128
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9360
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.179e0

FS
type: SiteQuality
SIO_000300: 2.709e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

DP
type: SiteQuality
SIO_000300: 1.809644e6

QD
type: SiteQuality
SIO_000300: 1.464e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.827e0

QD
type: SiteQuality
SIO_000300: 1.404e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e0

FS
type: SiteQuality
SIO_000300: 1.537e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.423e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.808859e6

MQRankSum
type: SiteQuality
SIO_000300: -4.87e-1

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3629
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

FS
type: SiteQuality
SIO_000300: 4.813e0

QD
type: SiteQuality
SIO_000300: 1.599e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.43e0

VQSLOD
type: SiteQuality
SIO_000300: 5.01e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.84e-1

DP
type: SiteQuality
SIO_000300: 1.807617e6

GenotypeQuality
all individuals: 283
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 22

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 613
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variant carriers: 0

GenotypeQuality
all individuals: 2105
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.152869110890911e-4
allele num: 66606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

DP
type: SiteQuality
SIO_000300: 1.807272e6

QD
type: SiteQuality
SIO_000300: 1.466e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

GenotypeQuality
all individuals: 2105
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 436
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GenotypeQuality
all individuals: 3628
bin: 9.75e1
variant carriers: 23

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.302906557770839e-4
allele num: 66608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.484e1

DP
type: SiteQuality
SIO_000300: 1.80697e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3608
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variant carriers: 1

GenotypeQuality
all individuals: 9309
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variant carriers: 0

GenotypeQuality
all individuals: 339
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variant carriers: 0

GenotypeQuality
all individuals: 62
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GenotypeQuality
all individuals: 437
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 612
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GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.086427267194157e-5
allele num: 16430
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: -2.875e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.526e0

FS
type: SiteQuality
SIO_000300: 4.208e0

QD
type: SiteQuality
SIO_000300: 1.062e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.805243e6

GenotypeQuality
all individuals: 40689
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 2100
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3607
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variant carriers: 1

GenotypeQuality
all individuals: 436
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.52e0

QD
type: SiteQuality
SIO_000300: 1.13e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e-1

DP
type: SiteQuality
SIO_000300: 1.804891e6

GenotypeQuality
all individuals: 432
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.883e0

QD
type: SiteQuality
SIO_000300: 1.544e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 1.5854e1

DP
type: SiteQuality
SIO_000300: 1.7983e6

GenotypeQuality
all individuals: 238
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8601
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.747335313646689e-4
allele num: 11446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.122e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.738484e6

VQSLOD
type: SiteQuality
SIO_000300: -1.837e0

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.477e0

GenotypeQuality
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
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GenotypeQuality
all individuals: 1280
bin: 2.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
all individuals: 1019
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GenotypeQuality
all individuals: 50
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GenotypeQuality
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GenotypeQuality
all individuals: 33390
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variant carriers: 0

GenotypeQuality
all individuals: 8080
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GenotypeQuality
all individuals: 5142
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.023106288929073e-4
allele num: 9954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.156e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.957e0

MQRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.17e-1

DP
type: SiteQuality
SIO_000300: 1.685405e6

GenotypeQuality
all individuals: 973
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 7.5e0
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GenotypeQuality
all individuals: 31609
bin: 6.25e1
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GenotypeQuality
all individuals: 7559
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GenotypeQuality
all individuals: 571
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GenotypeQuality
all individuals: 1983
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
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variant carriers: 0

GenotypeQuality
all individuals: 3567
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64664
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.558237145855194e-5
allele num: 15248
num of homozygotes: 0

MQRankSum
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MQ
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ClippingRankSum
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DP
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QD
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -9.0e-4

FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.01e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 45

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63318
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 45
allele frequency: 3.103020273065784e-3
allele num: 14502
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11232
num of homozygotes: 0

MQ
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -2.6e-3

ReadPosRankSum
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FS
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 29

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11208
num of homozygotes: 0

South Asian
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allele count: 29
allele frequency: 2.004423555432679e-3
allele num: 14468
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.58473582453805e-5
allele num: 63102
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9562
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East Asian
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allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: -3.13e-1

MQRankSum
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 8.83e-1

InbreedingCoeff
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SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.373e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.66e0

DP
type: SiteQuality
SIO_000300: 1.402512e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 14132
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9406
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7852
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.604106512672442e-5
allele num: 62340
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11130
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.733e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

DP
type: SiteQuality
SIO_000300: 1.356597e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59732
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10732
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.07828337287039e-4
allele num: 9274
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Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

DP
type: SiteQuality
SIO_000300: 1.295324e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.071e0

VQSLOD
type: SiteQuality
SIO_000300: -2.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.133e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.348737697903295e-4
allele num: 9348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
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BaseQRankSum
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SIO_000300: -2.616e0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7802
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

Latino
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allele frequency: 9.243852837862822e-5
allele num: 10818
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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QD
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InbreedingCoeff
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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allele frequency: 1.861966236345581e-4
allele num: 16112
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African
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allele frequency: 0.0e0
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East Asian
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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MQ
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FS
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QD
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ReadPosRankSum
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InbreedingCoeff
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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allele frequency: 4.688232536333802e-4
allele num: 8532
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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Latino
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Other
type: Population
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QD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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FS
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MQ
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ReadPosRankSum
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DP
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VQSLOD
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BaseQRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6592
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.508159140952553e-5
allele num: 66306
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
type: Population
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African
type: Population
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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VQSLOD
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QD
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FS
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DP
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.088650754992694e-5
allele num: 16424
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506160195198361e-5
allele num: 66394
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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FS
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-2

QD
type: SiteQuality
SIO_000300: 1.362e1

DP
type: SiteQuality
SIO_000300: 1.601913e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

InbreedingCoeff
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 2.051e0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.72e-1

DP
type: SiteQuality
SIO_000300: 1.607452e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.697e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.505180958101817e-5
allele num: 66590
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.35e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.299e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.003544182134919e-5
allele num: 66588
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.955e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.515e0

ClippingRankSum
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SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8644
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MQRankSum
type: SiteQuality
SIO_000300: -4.9e-1

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.608064e6

FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11530
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
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South Asian
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allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506024096385542e-5
allele num: 66400
num of homozygotes: 0

East Asian
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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MQ
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QD
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.041383476816191e-5
allele num: 66210
num of homozygotes: 0

Latino
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European (Finnish)
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Other
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VQSLOD
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MQRankSum
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MQ
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QD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-5
allele num: 66100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.59031e6

VQSLOD
type: SiteQuality
SIO_000300: 5.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.765e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.053e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.211e1

FS
type: SiteQuality
SIO_000300: 3.319e0

GenotypeQuality
all individuals: 568
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4813
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
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GenotypeQuality
all individuals: 190
bin: 5.25e1
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GenotypeQuality
all individuals: 1674
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 8.75e1
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GenotypeQuality
all individuals: 1387
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.133464180569185e-5
allele num: 16304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.553319369820599e-5
allele num: 65886
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

VQSLOD
type: SiteQuality
SIO_000300: 2.93e-1

DP
type: SiteQuality
SIO_000300: 1.578322e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

QD
type: SiteQuality
SIO_000300: 1.583e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.79e-1

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 702
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 568
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GenotypeQuality
all individuals: 1380
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variant carriers: 0

GenotypeQuality
all individuals: 900
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 4798
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variant carriers: 0

GenotypeQuality
all individuals: 654
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variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.75609756097561e-5
allele num: 10250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.568605e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.642e0

VQSLOD
type: SiteQuality
SIO_000300: 6.850000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

QD
type: SiteQuality
SIO_000300: 1.151e1

GenotypeQuality
all individuals: 1375
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
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GenotypeQuality
all individuals: 1275
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1310
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variant carriers: 0

GenotypeQuality
all individuals: 40064
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variant carriers: 0

GenotypeQuality
all individuals: 412
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GenotypeQuality
all individuals: 4157
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variant carriers: 1

GenotypeQuality
all individuals: 913
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65634
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.151574803149606e-5
allele num: 16256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: -7.177e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

FS
type: SiteQuality
SIO_000300: 6.506e0

QD
type: SiteQuality
SIO_000300: 1.213e1

DP
type: SiteQuality
SIO_000300: 1.559454e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.042e0

GenotypeQuality
all individuals: 412
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4158
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4692
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 568
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variant carriers: 0

GenotypeQuality
all individuals: 397
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variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.2306177701206e-4
allele num: 16252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.822e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.76e-1

DP
type: SiteQuality
SIO_000300: 1.558993e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 3.313e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 7.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

GenotypeQuality
all individuals: 1279
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4160
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1370
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
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variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.170554115759595e-5
allele num: 16206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.649002570064863e-5
allele num: 65368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

FS
type: SiteQuality
SIO_000300: 2.899e0

DP
type: SiteQuality
SIO_000300: 1.537816e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

QD
type: SiteQuality
SIO_000300: 1.611e1

GenotypeQuality
all individuals: 720
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4245
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32402
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variant carriers: 0

GenotypeQuality
all individuals: 408
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variant carriers: 0

GenotypeQuality
all individuals: 1315
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 897
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variant carriers: 0

GenotypeQuality
all individuals: 816
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variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 8.094645080946451e-4
allele num: 16060
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64870
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 2.523e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.626e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

DP
type: SiteQuality
SIO_000300: 1.500144e6

QD
type: SiteQuality
SIO_000300: 1.205e1

GenotypeQuality
all individuals: 876
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
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variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4169
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3250
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32402
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4245
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.083089255433945e-5
allele num: 64870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.205e1

FS
type: SiteQuality
SIO_000300: 2.523e0

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.626e0

DP
type: SiteQuality
SIO_000300: 1.500144e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 141
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 562
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GenotypeQuality
all individuals: 1309
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4590
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4043
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.965408805031447e-4
allele num: 10176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16058
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.114e1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.371e0

FS
type: SiteQuality
SIO_000300: 1.563e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.917e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.34e-1

DP
type: SiteQuality
SIO_000300: 1.459511e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 27754
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 875
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 68
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
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variant carriers: 0

GenotypeQuality
all individuals: 4039
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.189060642092747e-4
allele num: 8410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542400592281827e-5
allele num: 64834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16066
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.840000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 1.458913e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.497e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
all individuals: 3077
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variant carriers: 0

GenotypeQuality
all individuals: 562
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variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4155
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3707
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2416
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.972775695403433e-4
allele num: 10138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64446
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.418786e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.503e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 3193
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3588
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15948
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64232
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.885330170027679e-5
allele num: 10116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.78e0

MQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.098e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
type: SiteQuality
SIO_000300: 1.40355e6

FS
type: SiteQuality
SIO_000300: 5.456e0

GenotypeQuality
all individuals: 868
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6517
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564308731971342e-5
allele num: 63926
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15930
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.949e0

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

QD
type: SiteQuality
SIO_000300: 1.418e1

DP
type: SiteQuality
SIO_000300: 1.395406e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
all individuals: 102
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4997
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4153
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3320
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GenotypeQuality
all individuals: 870
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573118550213944e-5
allele num: 63568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.406e0

QD
type: SiteQuality
SIO_000300: 8.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.18e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.392197e6

GenotypeQuality
all individuals: 660
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3265
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variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 8.25e1
variant carriers: 1

Other
type: Population
allele count: 1
allele frequency: 1.133786848072562e-3
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

African
type: Population
allele count: 66
allele frequency: 6.585511873877469e-3
allele num: 10022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.461931495615971e-5
allele num: 63412
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.012256669069935e-5
allele num: 11096
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.073e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.369e1

VQSLOD
type: SiteQuality
SIO_000300: 6.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.391715e6

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2807
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
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GenotypeQuality
all individuals: 1056
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GenotypeQuality
all individuals: 652
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008966720828068e-5
allele num: 66468
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16258
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.2045e1

DP
type: SiteQuality
SIO_000300: 1.848595e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

QD
type: SiteQuality
SIO_000300: 1.934e1

GenotypeQuality
all individuals: 33211
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
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variant carriers: 0

GenotypeQuality
all individuals: 357
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 640
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GenotypeQuality
all individuals: 4868
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1481
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variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.053265121877821e-4
allele num: 66460
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.849007e6

MQRankSum
type: SiteQuality
SIO_000300: -6.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.115e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 1.543e0

QD
type: SiteQuality
SIO_000300: 1.408e1

GenotypeQuality
all individuals: 991
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9254
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 273
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 498
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GenotypeQuality
all individuals: 1015
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4884
bin: 9.75e1
variant carriers: 40

GenotypeQuality
all individuals: 2761
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.459895300559601e-4
allele num: 66476
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

East Asian
type: Population
allele count: 19
allele frequency: 2.202132591562355e-3
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.382e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

DP
type: SiteQuality
SIO_000300: 1.849612e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2613
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 622
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30
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GenotypeQuality
all individuals: 4832
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 409
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GenotypeQuality
all individuals: 2494
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.353383458646617e-4
allele num: 66500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

DP
type: SiteQuality
SIO_000300: 1.856031e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.323e1

FS
type: SiteQuality
SIO_000300: 1.848e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 544
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 9280
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GenotypeQuality
all individuals: 4822
bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 36010
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.859229e6

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.238e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.264e0

MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.034e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1